Incidental Mutation 'R1667:Anks1b'
ID 187300
Institutional Source Beutler Lab
Gene Symbol Anks1b
Ensembl Gene ENSMUSG00000058589
Gene Name ankyrin repeat and sterile alpha motif domain containing 1B
Synonyms C030032C09Rik, Gm10937, AIDA-1b, LOC380650, E530015N03Rik
MMRRC Submission 039703-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1667 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 89709371-90809162 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 90347046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099368] [ENSMUST00000099368] [ENSMUST00000182907] [ENSMUST00000182936] [ENSMUST00000183156]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000099368
SMART Domains Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 46 N/A INTRINSIC
ANK 58 87 1.88e-5 SMART
ANK 91 123 3.13e-2 SMART
ANK 127 156 6.92e-4 SMART
ANK 160 189 3.08e-1 SMART
ANK 193 222 1.43e-5 SMART
ANK 225 254 4.75e-2 SMART
low complexity region 498 513 N/A INTRINSIC
low complexity region 551 577 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
SAM 806 875 2.06e-19 SMART
SAM 880 931 4.44e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000099368
SMART Domains Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 46 N/A INTRINSIC
ANK 58 87 1.88e-5 SMART
ANK 91 123 3.13e-2 SMART
ANK 127 156 6.92e-4 SMART
ANK 160 189 3.08e-1 SMART
ANK 193 222 1.43e-5 SMART
ANK 225 254 4.75e-2 SMART
low complexity region 498 513 N/A INTRINSIC
low complexity region 551 577 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
SAM 806 875 2.06e-19 SMART
SAM 880 931 4.44e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182907
SMART Domains Protein: ENSMUSP00000138614
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182936
SMART Domains Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 46 N/A INTRINSIC
ANK 58 87 1.88e-5 SMART
ANK 91 123 3.13e-2 SMART
ANK 127 156 6.92e-4 SMART
ANK 160 189 3.08e-1 SMART
ANK 193 222 1.43e-5 SMART
ANK 225 254 5.03e2 SMART
low complexity region 464 479 N/A INTRINSIC
low complexity region 517 543 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000183156
SMART Domains Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 46 N/A INTRINSIC
ANK 58 87 1.88e-5 SMART
ANK 91 123 3.13e-2 SMART
ANK 127 156 6.92e-4 SMART
ANK 160 189 3.08e-1 SMART
ANK 193 222 1.43e-5 SMART
ANK 225 254 4.75e-2 SMART
low complexity region 498 513 N/A INTRINSIC
low complexity region 551 577 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
SAM 806 875 2.06e-19 SMART
SAM 880 948 5.66e-17 SMART
low complexity region 968 983 N/A INTRINSIC
PTB 1056 1194 2.94e-38 SMART
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (76/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons alters hippocampal synaptic transmission. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,425,564 (GRCm39) A26T possibly damaging Het
Adgrg3 T A 8: 95,760,001 (GRCm39) Y73* probably null Het
Alk A T 17: 72,218,562 (GRCm39) V761E probably damaging Het
Ankrd13a T C 5: 114,924,794 (GRCm39) V93A possibly damaging Het
Arb2a T A 13: 77,907,635 (GRCm39) M1K probably null Het
Ascl1 T C 10: 87,328,655 (GRCm39) N99S probably benign Het
Atm A T 9: 53,412,232 (GRCm39) L972Q probably damaging Het
Atp2c1 A T 9: 105,309,996 (GRCm39) L566Q probably null Het
Bank1 T A 3: 135,799,057 (GRCm39) Y629F probably damaging Het
Bod1l G T 5: 41,974,118 (GRCm39) L2399I probably benign Het
Bub1b G A 2: 118,471,670 (GRCm39) G1010D probably benign Het
Ces1b G A 8: 93,783,532 (GRCm39) H563Y possibly damaging Het
Cfap70 T C 14: 20,454,225 (GRCm39) E853G probably benign Het
Cfh T C 1: 140,033,261 (GRCm39) E779G probably benign Het
Cox7c A G 13: 86,194,003 (GRCm39) S7P probably benign Het
Cyp2c67 A G 19: 39,632,034 (GRCm39) probably null Het
Dhx30 G T 9: 109,914,513 (GRCm39) L995I possibly damaging Het
Dhx30 G C 9: 109,914,514 (GRCm39) N957K possibly damaging Het
Dsc3 T C 18: 20,124,617 (GRCm39) T36A possibly damaging Het
Dstyk A G 1: 132,384,657 (GRCm39) D717G probably damaging Het
Dusp10 A G 1: 183,769,055 (GRCm39) D7G probably damaging Het
E230001N04Rik T G 17: 28,742,935 (GRCm39) noncoding transcript Het
Ece2 T C 16: 20,456,588 (GRCm39) S330P possibly damaging Het
Frmd5 ATAGTGGAATTGTTCAAACTC ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC 2: 121,379,211 (GRCm39) probably null Het
Gata3 T C 2: 9,882,360 (GRCm39) H14R possibly damaging Het
Ggta1 T A 2: 35,304,295 (GRCm39) I75F possibly damaging Het
Hcn1 A T 13: 117,739,609 (GRCm39) I124F unknown Het
Herpud1 A C 8: 95,115,994 (GRCm39) D53A probably damaging Het
Inhba T A 13: 16,201,209 (GRCm39) L257Q possibly damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Jmy T A 13: 93,634,878 (GRCm39) S313C probably damaging Het
Lpo G A 11: 87,698,067 (GRCm39) probably benign Het
Lsg1 T C 16: 30,390,170 (GRCm39) E315G probably damaging Het
Lsm14a T A 7: 34,065,079 (GRCm39) T167S possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map3k2 T C 18: 32,336,845 (GRCm39) probably benign Het
Mapk12 A T 15: 89,024,344 (GRCm39) M81K probably damaging Het
Matn2 T A 15: 34,378,878 (GRCm39) C305S probably damaging Het
Mgam T C 6: 40,653,978 (GRCm39) Y844H possibly damaging Het
Mgat5b A G 11: 116,838,203 (GRCm39) R281G probably benign Het
Mon1b T G 8: 114,368,589 (GRCm39) C497G probably damaging Het
Mybbp1a A T 11: 72,336,043 (GRCm39) H452L probably benign Het
Mybl2 A G 2: 162,917,616 (GRCm39) T41A probably damaging Het
Ncoa5 A G 2: 164,843,623 (GRCm39) V540A probably damaging Het
Nup93 T A 8: 95,019,315 (GRCm39) V47E possibly damaging Het
Or10a4 A T 7: 106,696,977 (GRCm39) M102L probably benign Het
Or5j3 A G 2: 86,129,080 (GRCm39) M307V probably null Het
Orc6 T A 8: 86,031,914 (GRCm39) C100S possibly damaging Het
Otogl G T 10: 107,649,826 (GRCm39) Y1176* probably null Het
Patj A T 4: 98,301,264 (GRCm39) D183V probably damaging Het
Pik3r3 A G 4: 116,079,514 (GRCm39) T4A probably damaging Het
Pla2g4d G A 2: 120,100,631 (GRCm39) probably benign Het
Pla2r1 A G 2: 60,250,601 (GRCm39) I1407T probably benign Het
Pramel13 A T 4: 144,119,606 (GRCm39) C320* probably null Het
Prex2 A T 1: 11,256,981 (GRCm39) H1231L probably benign Het
Prkca A G 11: 107,874,772 (GRCm39) V390A probably damaging Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rec8 T A 14: 55,856,253 (GRCm39) N37K probably damaging Het
Rnf207 C T 4: 152,397,672 (GRCm39) E361K probably benign Het
Serpina3f T A 12: 104,183,699 (GRCm39) L187Q probably damaging Het
Skint11 A T 4: 114,051,978 (GRCm39) T109S probably damaging Het
Slc7a8 A G 14: 54,962,306 (GRCm39) S443P probably damaging Het
Slc8b1 T A 5: 120,659,147 (GRCm39) F197Y probably benign Het
Sox2 T C 3: 34,704,568 (GRCm39) Y2H probably damaging Het
Speg T A 1: 75,387,193 (GRCm39) probably benign Het
Tlr3 T C 8: 45,853,874 (GRCm39) N149D probably benign Het
Trim60 A C 8: 65,454,116 (GRCm39) D44E probably benign Het
Ugt1a7c A G 1: 88,023,657 (GRCm39) Y272C probably damaging Het
Vmn1r4 T A 6: 56,933,738 (GRCm39) Y81N probably damaging Het
Vmn2r73 A T 7: 85,506,889 (GRCm39) C808S probably benign Het
Ythdf3 T C 3: 16,259,056 (GRCm39) I412T possibly damaging Het
Zfp672 T C 11: 58,206,921 (GRCm39) T467A possibly damaging Het
Zfp985 A T 4: 147,668,407 (GRCm39) Q425L possibly damaging Het
Other mutations in Anks1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Anks1b APN 10 90,733,100 (GRCm39) splice site probably benign
IGL01890:Anks1b APN 10 90,480,389 (GRCm39) missense probably benign 0.15
IGL01966:Anks1b APN 10 90,730,994 (GRCm39) missense probably damaging 1.00
IGL02176:Anks1b APN 10 89,878,530 (GRCm39) missense probably damaging 0.99
IGL02205:Anks1b APN 10 89,906,956 (GRCm39) missense probably benign 0.00
IGL02465:Anks1b APN 10 89,999,127 (GRCm39) nonsense probably null
IGL02534:Anks1b APN 10 90,730,979 (GRCm39) missense probably benign 0.45
IGL02554:Anks1b APN 10 90,757,240 (GRCm39) missense probably damaging 1.00
IGL02820:Anks1b APN 10 89,912,921 (GRCm39) missense possibly damaging 0.93
IGL03164:Anks1b APN 10 89,878,554 (GRCm39) missense probably damaging 1.00
R0096:Anks1b UTSW 10 89,909,924 (GRCm39) missense possibly damaging 0.90
R0096:Anks1b UTSW 10 89,909,924 (GRCm39) missense possibly damaging 0.90
R0482:Anks1b UTSW 10 90,195,057 (GRCm39) missense probably benign 0.00
R0542:Anks1b UTSW 10 89,909,829 (GRCm39) splice site probably benign
R0848:Anks1b UTSW 10 89,906,987 (GRCm39) missense probably damaging 0.99
R1056:Anks1b UTSW 10 90,757,291 (GRCm39) splice site probably null
R1398:Anks1b UTSW 10 89,885,891 (GRCm39) missense probably damaging 1.00
R1446:Anks1b UTSW 10 90,346,935 (GRCm39) missense probably benign 0.00
R1548:Anks1b UTSW 10 89,885,847 (GRCm39) missense possibly damaging 0.79
R1551:Anks1b UTSW 10 89,912,843 (GRCm39) missense probably benign 0.00
R1607:Anks1b UTSW 10 89,878,410 (GRCm39) missense probably damaging 1.00
R1701:Anks1b UTSW 10 89,885,816 (GRCm39) missense probably damaging 1.00
R1843:Anks1b UTSW 10 90,348,751 (GRCm39) critical splice donor site probably null
R1899:Anks1b UTSW 10 90,096,618 (GRCm39) missense probably damaging 1.00
R1957:Anks1b UTSW 10 89,885,792 (GRCm39) missense probably damaging 1.00
R2036:Anks1b UTSW 10 90,805,715 (GRCm39) missense probably damaging 0.99
R2279:Anks1b UTSW 10 89,885,958 (GRCm39) missense probably damaging 1.00
R2280:Anks1b UTSW 10 90,802,164 (GRCm39) missense probably damaging 1.00
R2937:Anks1b UTSW 10 89,912,928 (GRCm39) missense probably damaging 1.00
R3739:Anks1b UTSW 10 89,869,078 (GRCm39) missense probably damaging 1.00
R4061:Anks1b UTSW 10 90,143,484 (GRCm39) missense probably damaging 0.98
R4459:Anks1b UTSW 10 90,346,706 (GRCm39) missense probably damaging 1.00
R4479:Anks1b UTSW 10 89,885,754 (GRCm39) missense probably damaging 1.00
R4510:Anks1b UTSW 10 90,346,652 (GRCm39) missense probably benign 0.01
R4511:Anks1b UTSW 10 90,346,652 (GRCm39) missense probably benign 0.01
R4780:Anks1b UTSW 10 89,709,594 (GRCm39) missense probably damaging 1.00
R4785:Anks1b UTSW 10 90,750,612 (GRCm39) missense probably null 0.88
R4790:Anks1b UTSW 10 89,999,137 (GRCm39) missense probably damaging 0.99
R5012:Anks1b UTSW 10 90,194,999 (GRCm39) missense probably benign 0.06
R5400:Anks1b UTSW 10 90,348,686 (GRCm39) missense probably damaging 1.00
R5586:Anks1b UTSW 10 89,912,926 (GRCm39) missense probably damaging 0.98
R5687:Anks1b UTSW 10 90,750,573 (GRCm39) missense probably benign 0.03
R5899:Anks1b UTSW 10 90,759,379 (GRCm39) splice site probably null
R5917:Anks1b UTSW 10 90,412,803 (GRCm39) intron probably benign
R5999:Anks1b UTSW 10 90,194,910 (GRCm39) missense probably damaging 1.00
R6080:Anks1b UTSW 10 90,802,211 (GRCm39) nonsense probably null
R6216:Anks1b UTSW 10 90,096,618 (GRCm39) missense probably damaging 1.00
R6265:Anks1b UTSW 10 90,777,362 (GRCm39) missense probably damaging 1.00
R6298:Anks1b UTSW 10 90,516,699 (GRCm39) missense probably damaging 1.00
R6337:Anks1b UTSW 10 90,757,158 (GRCm39) missense probably benign 0.27
R6522:Anks1b UTSW 10 90,733,189 (GRCm39) intron probably benign
R6843:Anks1b UTSW 10 90,784,460 (GRCm39) missense probably damaging 1.00
R6852:Anks1b UTSW 10 90,096,516 (GRCm39) missense probably damaging 1.00
R6933:Anks1b UTSW 10 89,905,352 (GRCm39) missense probably damaging 1.00
R7114:Anks1b UTSW 10 90,143,560 (GRCm39) missense probably damaging 1.00
R7211:Anks1b UTSW 10 90,346,932 (GRCm39) missense possibly damaging 0.94
R7241:Anks1b UTSW 10 90,348,699 (GRCm39) missense probably damaging 1.00
R7264:Anks1b UTSW 10 90,348,732 (GRCm39) missense probably benign 0.08
R7325:Anks1b UTSW 10 90,777,294 (GRCm39) missense probably damaging 1.00
R7392:Anks1b UTSW 10 90,516,648 (GRCm39) missense possibly damaging 0.47
R7578:Anks1b UTSW 10 89,885,789 (GRCm39) missense probably damaging 1.00
R7604:Anks1b UTSW 10 90,096,708 (GRCm39) splice site probably null
R7633:Anks1b UTSW 10 90,784,446 (GRCm39) missense probably damaging 1.00
R7881:Anks1b UTSW 10 90,802,880 (GRCm39) missense probably benign 0.07
R7910:Anks1b UTSW 10 90,516,654 (GRCm39) missense probably damaging 1.00
R7941:Anks1b UTSW 10 90,413,017 (GRCm39) missense probably damaging 0.98
R8045:Anks1b UTSW 10 90,516,722 (GRCm39) missense probably benign
R8146:Anks1b UTSW 10 90,143,560 (GRCm39) missense probably damaging 1.00
R8176:Anks1b UTSW 10 89,905,353 (GRCm39) missense probably damaging 1.00
R8535:Anks1b UTSW 10 90,784,493 (GRCm39) missense probably benign 0.00
R8681:Anks1b UTSW 10 89,885,868 (GRCm39) missense probably damaging 0.99
R9300:Anks1b UTSW 10 90,412,966 (GRCm39) missense possibly damaging 0.93
R9469:Anks1b UTSW 10 90,733,205 (GRCm39) missense possibly damaging 0.58
R9541:Anks1b UTSW 10 90,412,947 (GRCm39) missense probably benign 0.02
R9550:Anks1b UTSW 10 90,412,360 (GRCm39) start codon destroyed probably null
R9653:Anks1b UTSW 10 90,346,524 (GRCm39) missense probably damaging 1.00
RF004:Anks1b UTSW 10 89,869,087 (GRCm39) missense probably damaging 1.00
RF008:Anks1b UTSW 10 89,869,087 (GRCm39) missense probably damaging 1.00
RF017:Anks1b UTSW 10 89,869,087 (GRCm39) missense probably damaging 1.00
RF018:Anks1b UTSW 10 89,869,087 (GRCm39) missense probably damaging 1.00
RF023:Anks1b UTSW 10 89,869,087 (GRCm39) missense probably damaging 1.00
X0064:Anks1b UTSW 10 90,348,707 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAACCATACCATCGTTGGCACAAG -3'
(R):5'- GTAGCAATGCGCTCATTTTCCCAC -3'

Sequencing Primer
(F):5'- TCGTTGGCACAAGAATGTCC -3'
(R):5'- TTATTAACAACGCCTACCCCTCC -3'
Posted On 2014-05-09